K29E (p.Lys29Glu) variant of BAG3 (O95817)
K29E (p.Lys29Glu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- gnomAD 10-119651760-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.244
- Literature evidence available